Second-trimester amniocentesis vs. chorionic villus sampling for prenatal diagnosis in multiple gestations.

OBJECTIVE: To study the impact of invasive procedures for prenatal diagnosis on multiple pregnancies and compare first-trimester chorionic villus sampling with second-trimester amniocentesis. DESIGN: Retrospective study of 347 second-trimester amniocenteses and 69 chorionic villus sampling procedures. RESULTS: Miscarriage occurred in 4.18% of women after amniocentesis and 4.54% of women after chorionic villus sampling. In the amniocentesis group the risk of miscarriage was higher in the cases with transplacental entry (4.54%) than in those with transamniotic entry (2.08%). The rates of preterm delivery < or = 32 weeks and preterm delivery < or = 35 weeks in the amniocentesis group were 11.8% and 32.4% and in the chorionic villus sampling group 16.66% and 23.8%, respectively. Total fetal loss rate was similar in the amniocentesis group (8.8%) and the chorionic villus sampling group (10.22%). In the 21 cases where selective feticide was carried out the total fetal loss rate was lower in the chorionic villus sampling group (8.3%) than in the amniocentesis group (11.1%), although the difference did not reach statistical significance. CONCLUSION: Chorionic villus sampling appears to be a safe alternative to amniocentesis and should be considered as the method of choice particularly when there is a high risk of an affected fetus necessitating selective feticide.     

Mid-trimester fetal subdural hemorrhage: prenatal diagnosis.

A routine antenatal ultrasound examination at 20 weeks' gestation revealed a space-occupying lesion in the fetal right cerebral hemisphere. The borders of the mass were indistinct and there was no midline shift. A small collection of echogenic bowel was identified at the right iliac fossa. In an attempt to explain both findings a provisional diagnosis of a fetal blood dyscrasia was made. Fetal cranial magnetic resonance imaging 24 h later confirmed the diagnosis of a subdural hemorrhage. Subsequent fetal blood sampling confirmed severe fetal thrombocytopenia. To our knowledge this is the first report of the antenatal diagnosis of spontaneous mid-trimester fetal subdural hemorrhage.     

孕周对产前超声诊断胎儿腹腔积液及胎儿结局的影响

目的 观察孕周对产前超声诊断胎儿腹腔积液及胎儿结局的影响。方法 根据首诊胎儿腹腔积液时孕周将58例超声诊断胎儿腹腔积液孕妇（58胎）分为2组，Ⅰ组（<24周）20例，Ⅱ组（≥ 24周）38例；对比2组产前诊断结果及胎儿结局。结果 58例中，54例（54/58，93.10%）产前诊断明确，4例为胎儿特发性腹腔积液（单纯性腹腔积液，未合并其他异常）。Ⅰ组产前诊断结果主要为胎儿消化系统疾病及水肿，Ⅱ组主要为胎儿消化系统疾病、水肿、泌尿生殖系统异常及循环系统异常等；Ⅰ组与Ⅱ组产前诊断差异无统计学意义（P均>0.05）。Ⅰ组12例（12/20，60.00%）终止妊娠，7例（7/20，35.00%）胎儿结局好；Ⅱ组10例（10/38，26.32%）终止妊娠，5例新生儿出生后7天内死亡（5/38，13.16%），20例（20/38，52.63%）胎儿结局好。Ⅰ组终止妊娠率高于Ⅱ组（χ²=6.32，P=0.01）。结论 孕周对产前诊断腹腔积液及胎儿结局均存在影响。     

产前超声诊断胎儿三尖瓣下移畸形的应用价值

目的 探讨产前超声诊断胎儿三尖瓣下移畸形的临床价值。方法 回顾性分析6例经胎儿超声心动图诊断为三尖瓣下移畸形的超声诊断资料与随诊结果，总结其异常声像图特点。结果6例胎儿均经尸体解剖证实为三尖瓣下移畸形，其中三尖瓣隔叶下移2例，隔叶及后叶下移3例，隔叶、后叶及前叶下移1例。6例三尖瓣下移畸形中4例伴有功能右室缩小，合并房间隔缺损1例，肺动脉狭窄1例；4例伴有胸、腹腔及心包积液。胎儿三尖瓣下移畸形主要声像图表现为右心扩大，三尖瓣叶附着点下移，心尖到二尖瓣前叶附着点的距离与到三尖瓣隔叶附着点的距离比值≥1．8，形成典型房化右室特征；彩色血流显示三尖瓣重度反流，其反流起源点低，反流面积大，但反流速度低，平均反流速度217．0cm／s。结论 胎儿三尖瓣下移畸形具有特征性声像图表现，产前超声诊断胎儿三尖瓣下移畸形具有重要临床价值。     

Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal brain abnormalities.

OBJECTIVE: To determine the degree of agreement between prenatal ultrasound diagnosis of brain abnormalities and subsequent pathologic findings. METHODS: Between August 1993 and August 1999 there were 62 cases where a fetus with a prenatal ultrasound diagnosis of a brain abnormality other than neural tube defects underwent autopsy at the Regional Department of Pediatric Pathology. The cerebral diagnosis at ultrasound was compared with the findings at autopsy in all cases. RESULTS: In 47 of 61 (77%) cases the same defects were seen on ultrasound and at autopsy. The most common disparity was with the Dandy-Walker malformation or variant, where only six of the 14 (43%) cases prenatally diagnosed with this condition showed the same abnormality at autopsy. When fetuses with the Dandy-Walker malformation or variant were excluded, the scan findings correlated with autopsy in 41 of 47 (87%). In the main group with discordant findings, five of the seven cases where termination of pregnancy was undertaken had other fetal anomalies on ultrasound examination which were confirmed at autopsy. In the sixth case there was autolysis of brain tissue which affected detailed autopsy. CONCLUSIONS: A very high level of agreement between prenatal ultrasound and autopsy findings was found for all abnormalities of the fetal brain, except for the Dandy-Walker malformation or variant. Potential discrepancy in findings between ultrasound and autopsy should be explained to patients who are considering termination of pregnancy for the Dandy-Walker type of abnormality.     

Number of yolk sacs does not predict amnionicity in early first-trimester monochorionic multiple gestations.

OBJECTIVE: To determine the relationship between amnionicity and number of yolk sacs before 11 weeks of gestation. METHODS: Twenty-two cases of monochorionic multiple pregnancy were scanned before 11 weeks of gestation. There were 21 sets of twins and one of triplets. Amnionicity was determined by visualization of a dividing amniotic membrane between the gestational sacs. The number of yolk sacs was recorded and compared with the presence or absence of a dividing membrane for all fetuses. RESULTS: In 17/20 (85%) cases of monochorionic diamniotic twins, two yolk sacs were seen. In 3/20 (15%) cases of monochorionic diamniotic twins, a single yolk sac was seen. In the one case of monochorionic diamniotic triplets, two yolk sacs were visualized. In one case of monoamniotic twins, a single yolk sac was observed. CONCLUSIONS: In monochorionic pregnancies, the presence of two yolk sacs predicts diamnionicity. However, the use of the number of yolk sacs as a predictor of amnionicity may not be accurate in a small proportion of patients. The diagnosis of monoamnionicity can be made only following a careful search for a dividing amniotic membrane.     

产前三维超声诊断及评价胎儿半椎体

目的 探讨三维超声诊断胎儿半椎体及所致脊柱侧弯的价值。方法 对中晚期妊娠正常胎儿30胎及9胎二维超声疑诊半椎体胎儿进行三维超声检查,与X线片及引产后数据进行对照。结果 三维超声对30胎正常胎儿脊柱冠状面的显示率为100%（30/30）, 二维超声仅为30.00%（9/30）。9胎疑诊半椎体胎儿中,7胎为半椎体,2胎为蝴蝶椎、半椎体混合畸形。对超声发现的8胎脊柱侧弯胎儿测量Cobb角,与X线测量结果差异无统计学意义（t=0.11,P=0.91）。结论 三维超声有助于诊断及评价胎儿半椎体,可为产前评估胎儿半椎体和判断预后提供更多信息。     

The use of cardiac ultrasound imaging in first-trimester prenatal diagnosis of congenital heart diseases

This study aims to explore ultrasound (US) cardiac and echocardiographic features that may enable the early diagnosis of various major congenital heart diseases (CHDs). Focusing on providing useful US tools for this assessment, high resolution of US cardiac images of various CHDs, such as hypoplastic left heart syndrome, conotruncal anomalies, and univentricular heart, were evaluated. Results show that early US detection of most major CHDs is feasible during first-trimester ultrasonography cardiac evaluation. Concerns about safety issues, findings on early fetal cardiovascular hemodynamics, and cardiac lesions that can progress during the course of pregnancy were also discussed.     

Ultrasound findings in gestations destined for unanticipated fetal demise.

There are few reports of ultrasound findings in the second and third trimesters preceding intrauterine fetal demise. To describe these findings, the ultrasound assessments of 36 structurally normal singleton fetuses with subsequent intrauterine fetal demise were compared to gestational age-matched controls. Compared to controls, it was found that biparietal diameter, head circumference, femur length and estimated fetal weight were all decreased, abnormalities of amniotic fluid volume were more frequent, but the cephalic index was not different. Upon delivery, the group with subsequent intrauterine fetal demise was not found to have any major anomalies, but had a high incidence of abnormal umbilical cord position, abruptio placentae, chorioamnionitis and meconium aspiration.     

产前超声对胎儿畸形的诊断价值

目的 探讨产前超声对胎儿畸形的诊断价值.方法 常规产前超声检查出畸形胎儿76例,并与引产后尸体解剖结果进行对照分析.结果 76例胎儿畸形中,单发畸形54例,占71.1%,多发畸形22例,占28.9%.产前超声检出畸形90处,产后诊断畸形126处,检出率71.4%.结论 产前超声检查对筛查胎儿畸形具有重要临床意义.     

超声在产前诊断胎儿肺动脉闭锁中的应用价值

目的探讨产前超声诊断胎儿肺动脉闭锁的临床价值.方法回顾分析7例经解剖证实的肺动脉闭锁胎儿的超声心动图资料,总结其异常声像图特点.结果7例在二维超声心动图各切面观中仅1例显示主肺动脉显著窄于主动脉,6例未显示主肺动脉;5例显示室间隔缺损伴主动脉骑跨,2例室间隔完整者均合并右室发育不良;彩色多普勒血流显像示5例动脉导管反向血流,3例显示三尖瓣反流.产前超声诊断胎儿肺动脉闭锁5例,诊断右心发育不良1例,误诊永存动脉干1例.结论产前超声检出动脉导管反向血流是诊断胎儿肺动脉闭锁的重要依据,具有重要的临床意义.     

Caroli's disease: prenatal diagnosis, postnatal outcome and genetic analysis.

Caroli's disease is a rare autosomal recessive condition characterized by cystic dilatation of the intrahepatic bile ducts and infantile polycystic kidney disease. We report a case with Caroli's disease detected prenatally at 33 weeks' gestation with fetal ultrasound findings of a cystic liver mass and echogenic kidneys. Postnatal investigation confirmed enlarged and echogenic kidneys with dilatation of the intrahepatic bile ducts consistent with the diagnosis of Caroli's disease. Genetic analysis of the gene, PKHD1, associated with autosomal recessive polycystic kidney disease (ARPKD) showed that the patient had compound heterozygous mutations, confirming that this early onset Caroli's disease was part of the spectrum of ARPKD. To our knowledge this is the third case of Caroli's disease detected prenatally and the first in which the infant survived.     

Postnatal outcome of fetuses with the prenatal diagnosis of gastroschisis.

OBJECTIVE: To assess the postnatal outcome and complications that arise in infants with the prenatal diagnosis of gastroschisis. METHODS: Prenatal sonograms with the diagnosis of gastroschisis were identified. Maternal age, indication for sonography, gestational age at diagnosis, other sonographic abnormalities, and postnatal outcome were recorded. RESULTS: Twenty-six fetuses at 16 to 36 weeks' gestational age had gastroschisis diagnosed on sonography. In 5 cases, other fetal anomalies were identified, including hydronephrosis and asymmetric hydrocephalus. In 9 of 21 cases followed by serial prenatal sonography, bowel dilatation developed, prompting delivery in 2. Two of the 26 study fetuses were electively terminated. The remaining 24 were born live and had immediate repair of the gastroschisis after birth. Nineteen infants (79%) had postnatal complications, some with multisystem complications, including 3 deaths, 10 with gastrointestinal complications, 6 with infectious complications, and 6 with anomalies involving other systems (genitourinary, cardiac, central nervous system, and respiratory). Only 5 infants (21%) had completely uncomplicated postsurgical courses. Hospital stays for survivors ranged from 10 to 98 days (mean, 38 days; median, 33 days). CONCLUSIONS: Although reported survival rates are good for gastroschisis, the postoperative hospital stay is often lengthy, and complications are very common, especially those related to the gastrointestinal tract. Other anomalies are uncommon but not rare.     

胎儿颅内出血的产前超声特征与妊娠结局

目的探讨胎儿颅内出血的产前超声声像图特征.方法对30例颅内出血胎儿产前及产后颅脑超声声像图进行对照分析.结果30例颅内出血胎儿超声声像图特征:(1)颅内异常回声特征:30例均显示颅内异常占位回声(双侧异常回声14例,单侧异常回声16例),但出血量、出血时间不同异常回声表现不同;其中15例(15/30,新鲜出血期)颅内出血区呈高回声,11例(部分液化期)颅内出血区呈混合性回声,4例(完全液化期)颅内出血区呈囊性无回声.(2)异常回声区边界及血流特征:异常回声区边界清晰,彩色多普勒血流成像示异常回声区内部及周边未见明显彩色血流信号.(3)超声分级诊断与随访结果:超声诊断Ⅰ级颅内出血17例(均为室管膜下出血),表现为单侧或双侧室管膜下高回声区、混合性回声区或囊性无回声区,大小3~21 mm,双侧侧脑室无扩张(侧脑室宽度均<15 mm);胎儿预后较好,颅脑超声随访(12例)均证实为颅内出血,引产1例,失访4例.Ⅱ级颅内出血5例,均无脑室扩张,单侧或双侧侧脑室内高回声区,大小8~28 mm,与脉络丛分界尚清,双侧侧脑室无扩张(侧脑室宽度均<15 mm);产后颅脑超声随访证实2例为颅内出血,引产2例,失访1例.Ⅲ级颅内出血6例,脑室内出血合并脑室扩张,单侧或双侧脑室内呈高回声或混合性回声区(单侧或双侧侧脑室宽度≥15 mm);胎儿MRI诊断颅内出血1例,引产5例,失访1例.Ⅳ级颅内出血2例(双胎1例),Ⅰ~Ⅲ级脑出血合并脑室周围实质内大范围出血,脑室周围实质呈高回声或混合性回声区;胎儿MRI诊断颅内出血1例,2例均引产(1例双胎之一胎死宫内).(4)颅内出血合并异常:合并宫内发育迟缓5例,胎盘异常3例,羊水异常3例.(5)临床结局:14例临床预后较好(Ⅰ级12例,Ⅱ级2例),产后新生儿存活,无严重神经系统并发症;引产10例预后均较差(Ⅰ级1例,Ⅱ级2例,Ⅲ级5例,Ⅳ级2例),失访6例.结论胎儿颅内出血产前超声表现为颅内异常占位回声区,回声边界清晰,其内无血流信号,超声分级诊断有助于判断胎儿颅内出血严重程度,可估测胎儿预后和协助产前咨询.     

First-trimester diagnosis of nuchal anomalies: significance and fetal outcome.

High-resolution real-time ultrasonography now permits the differentiation between nuchal translucencies and cystic hygromata of the neck in the first trimester. A series of 85 nuchal anomalies are presented that were diagnosed by ultrasonography at 9-14 weeks' gestation; their association with chromosomal defects and fetal outcome are also presented. Chromosomal anomalies were found in 8/29 nuchal translucencies and in 16/56 cystic hygromata of the neck. However, in fetuses with normal karyotype, additional defects were diagnosed in l0/40 fetuses with cystic hygromata and in none with nuchal translucency. These data may be important for the management of these conditions and for counselling the patients toward further pregnancy.     

产前诊断胎儿中枢神经系统异常的研究进展

产前诊断胎儿中枢神经系统异常大多通过观测胎儿中枢神经系统结构进行诊断,并不能确定其功能是否正常。因此,具有诊断意义的观测指标成为目前的研究热点。一些诊断新方法的涌现也为此提供了思路,使产前预测胎儿中枢神经系统异常的预后成为可能。本文对产前诊断胎儿中枢神经系统异常的研究进展进行综述。